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There was also a second physician named Bernard Sachs who recognized the familial nature of the disorder and also observed numerous cases. He witnessed that Tay Sachs disease was most common in the European, Jewish origin. Â· When was Tay Sachs disease discovered?Tay Sachs disease was discovered in the year of 1880.
Research in the late 20th century demonstrated that Tay-Sachs disease is caused by a genetic mutation on the HEXA gene on chromosome 15. A large number of HEXA mutations have been discovered, and new ones are still being reported. These mutations reach significant frequencies in several populations.he disease can potentially occur from the inheritance of two unrelated mutations in the HEXA gene. TSD is an autosomal recessive genetic disorder, meaning that when both parents are carriers, there is a 25% risk of giving birth to an affected child.